Incidental Mutation 'R0392:Pold2'
| ID |
31767 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pold2
|
| Ensembl Gene |
ENSMUSG00000020471 |
| Gene Name |
polymerase (DNA directed), delta 2, regulatory subunit |
| Synonyms |
50kDa, po1D2, p50 |
| MMRRC Submission |
038598-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0392 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
5822180-5828256 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5826776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 53
(I53V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102922]
[ENSMUST00000102923]
[ENSMUST00000109829]
[ENSMUST00000153995]
|
| AlphaFold |
O35654 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102922
AA Change: I53V
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099986
Gene: ENSMUSG00000020471
AA Change: I53V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNA_pol_E_B
|
196 |
412 |
1e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102923
|
| SMART Domains |
Protein: ENSMUSP00000099987
Gene: ENSMUSG00000020473
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
|
FA58C
|
375 |
531 |
8.72e-46 |
SMART |
|
Zn_pept
|
555 |
983 |
5.56e-43 |
SMART |
|
low complexity region
|
1005 |
1029 |
N/A |
INTRINSIC |
|
low complexity region
|
1035 |
1052 |
N/A |
INTRINSIC |
|
low complexity region
|
1069 |
1089 |
N/A |
INTRINSIC |
|
low complexity region
|
1092 |
1106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109829
|
| SMART Domains |
Protein: ENSMUSP00000105454
Gene: ENSMUSG00000020473
| Domain | Start | End | E-Value | Type |
|---|
|
FA58C
|
1 |
151 |
2.04e-37 |
SMART |
|
Zn_pept
|
175 |
603 |
5.56e-43 |
SMART |
|
low complexity region
|
625 |
649 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
672 |
N/A |
INTRINSIC |
|
low complexity region
|
689 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
712 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134957
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141907
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153995
AA Change: I53V
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122906
Gene: ENSMUSG00000020471
AA Change: I53V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3E0J|G
|
1 |
241 |
1e-142 |
PDB |
|
| Meta Mutation Damage Score |
0.5215 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.6%
|
| Validation Efficiency |
100% (31/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein is required for the stimulation of DNA polymerase delta activity by the processivity cofactor proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Mar 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
| Bcan |
T |
A |
3: 87,900,869 (GRCm39) |
K455* |
probably null |
Het |
| Casp12 |
T |
A |
9: 5,348,973 (GRCm39) |
|
probably benign |
Het |
| Ccdc61 |
T |
C |
7: 18,625,027 (GRCm39) |
M504V |
probably benign |
Het |
| Cd53 |
A |
T |
3: 106,670,592 (GRCm39) |
V147E |
probably damaging |
Het |
| Cyp2b13 |
T |
C |
7: 25,785,308 (GRCm39) |
Y226H |
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,671 (GRCm39) |
D413G |
probably damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,193,230 (GRCm39) |
I254T |
possibly damaging |
Het |
| Ddx39a |
T |
G |
8: 84,448,366 (GRCm39) |
M206R |
probably damaging |
Het |
| Dgki |
T |
A |
6: 36,977,113 (GRCm39) |
T666S |
probably damaging |
Het |
| Dnaaf8 |
T |
C |
16: 4,795,363 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7a |
C |
A |
1: 53,543,357 (GRCm39) |
C2271F |
probably damaging |
Het |
| Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,483,610 (GRCm39) |
K133R |
probably benign |
Het |
| Gm11146 |
T |
A |
16: 77,394,054 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
A |
T |
14: 57,733,617 (GRCm39) |
|
probably benign |
Het |
| Ighv10-3 |
A |
G |
12: 114,487,460 (GRCm39) |
|
probably benign |
Het |
| Lamp5 |
T |
C |
2: 135,902,817 (GRCm39) |
S179P |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,907,113 (GRCm39) |
S788P |
probably damaging |
Het |
| Or5m13 |
T |
A |
2: 85,749,106 (GRCm39) |
I279N |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,899,499 (GRCm39) |
W267R |
probably benign |
Het |
| Pafah1b2 |
T |
C |
9: 45,880,151 (GRCm39) |
I175M |
probably benign |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,011 (GRCm39) |
K386E |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,220,660 (GRCm39) |
N2056S |
probably benign |
Het |
| Rsf1 |
T |
A |
7: 97,328,212 (GRCm39) |
D1071E |
probably benign |
Het |
| Rtp3 |
A |
T |
9: 110,818,621 (GRCm39) |
M20K |
probably damaging |
Het |
| S1pr5 |
T |
A |
9: 21,156,277 (GRCm39) |
I50F |
probably damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,262,608 (GRCm39) |
S94P |
probably damaging |
Het |
| Slitrk5 |
G |
A |
14: 111,916,465 (GRCm39) |
V30I |
probably benign |
Het |
| St8sia5 |
G |
A |
18: 77,342,102 (GRCm39) |
V271M |
probably damaging |
Het |
| Sult2b1 |
G |
T |
7: 45,383,062 (GRCm39) |
T240N |
probably damaging |
Het |
|
| Other mutations in Pold2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00783:Pold2
|
APN |
11 |
5,822,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00784:Pold2
|
APN |
11 |
5,822,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01014:Pold2
|
APN |
11 |
5,822,293 (GRCm39) |
missense |
probably benign |
|
|
R0056:Pold2
|
UTSW |
11 |
5,822,338 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0111:Pold2
|
UTSW |
11 |
5,826,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1023:Pold2
|
UTSW |
11 |
5,825,140 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1496:Pold2
|
UTSW |
11 |
5,824,175 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1521:Pold2
|
UTSW |
11 |
5,826,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1835:Pold2
|
UTSW |
11 |
5,823,454 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1836:Pold2
|
UTSW |
11 |
5,823,454 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2032:Pold2
|
UTSW |
11 |
5,826,757 (GRCm39) |
missense |
probably benign |
|
|
R2055:Pold2
|
UTSW |
11 |
5,823,516 (GRCm39) |
nonsense |
probably null |
|
|
R5288:Pold2
|
UTSW |
11 |
5,826,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Pold2
|
UTSW |
11 |
5,826,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Pold2
|
UTSW |
11 |
5,826,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5469:Pold2
|
UTSW |
11 |
5,823,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5470:Pold2
|
UTSW |
11 |
5,823,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6232:Pold2
|
UTSW |
11 |
5,823,691 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7147:Pold2
|
UTSW |
11 |
5,823,095 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7886:Pold2
|
UTSW |
11 |
5,822,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8147:Pold2
|
UTSW |
11 |
5,826,842 (GRCm39) |
missense |
probably benign |
|
|
R8353:Pold2
|
UTSW |
11 |
5,825,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8453:Pold2
|
UTSW |
11 |
5,825,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9022:Pold2
|
UTSW |
11 |
5,824,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9564:Pold2
|
UTSW |
11 |
5,824,163 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGGAACAGTAGCCATCACTGCC -3'
(R):5'- TGCTTGGACCAAACAAGCCAGGAG -3'
Sequencing Primer
(F):5'- CCTCACTTTTAAGAAGAAGCAGG -3'
(R):5'- AGGAGTGCCGCCATGTTC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation